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calvarial doughnut lesions with bone fragility
Summary
- Definition
- An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones.
- Super Class
- osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0080721
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003510 | Severe short stature |
| HP:0000938 | Osteopenia |
| HP:0002684 | Thickened calvaria |
